Product Details

SNP ID

rs200987351

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:29148447 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGACCTAGATCTAGATCGGGAG[C/G]GCGATCTGGAAGCAGACCTGGATCT

Phenotype

MIM: 601940

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SRSF4 PubMed Links

Gene Details

Gene

SRSF4

Gene Name

serine and arginine rich splicing factor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005626.4	1531	Missense Mutation	CCC,CGC	P483R	NP_005617.2
XM_011541951.2	1531	Missense Mutation	CCC,CGC	P453R	XP_011540253.1

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